Variant report

Variant	rs73346089
Chromosome Location	chr12:58000233-58000234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:58000178-58000378	K562	blood:	n/a	chr12:58000365-58000375

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57998188..58000440-chr12:58014339..58016922,2	MCF-7	breast:
2	chr12:57999383..58001566-chr12:58144554..58147066,2	K562	blood:
3	chr12:57999349..58001291-chr12:58136626..58138684,2	MCF-7	breast:
4	chr12:57997608..58000545-chr12:58238111..58240464,2	MCF-7	breast:
5	chr12:57983454..57989400-chr12:57989791..58002327,29	MCF-7	breast:
6	chr12:57940405..57942301-chr12:57997757..58000737,2	MCF-7	breast:
7	chr12:57997114..58001112-chr12:58025485..58030490,5	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF25	TF binding region
DTX3	TF binding region
ENSG00000135452	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166908	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57624896	0.90[AFR][1000 genomes]
rs57989706	1.00[AFR][1000 genomes]
rs58060255	0.81[AFR][1000 genomes]
rs59166749	0.91[AFR][1000 genomes]
rs59193499	0.90[AFR][1000 genomes]
rs73335926	0.90[AFR][1000 genomes]
rs73335930	0.90[AFR][1000 genomes]
rs73335931	0.90[AFR][1000 genomes]
rs73338203	0.90[AFR][1000 genomes]
rs73346063	0.81[AFR][1000 genomes]
rs73346092	1.00[AFR][1000 genomes]
rs73347951	0.90[AFR][1000 genomes]
rs73349943	0.90[AFR][1000 genomes]
rs73351685	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57999400-58000400	Enhancers	Fetal Lung	lung
2	chr12:57999400-58000600	Weak transcription	Lung	lung
3	chr12:57999400-58000600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:57999400-58004000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:57999400-58004000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:57999400-58004800	Weak transcription	Gastric	stomach
7	chr12:57999600-58000400	Enhancers	Fetal Heart	heart
8	chr12:57999600-58000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:57999600-58000600	Weak transcription	Esophagus	oesophagus
10	chr12:57999600-58000600	Weak transcription	Ovary	ovary
11	chr12:57999600-58000800	Enhancers	K562	blood
12	chr12:57999600-58001200	Weak transcription	Right Ventricle	heart
13	chr12:57999600-58002200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:57999600-58002600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:57999600-58002600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:57999600-58003800	Weak transcription	Aorta	Aorta
17	chr12:57999600-58004000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:57999600-58004200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:57999600-58004200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:57999600-58004200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:57999600-58004200	Weak transcription	NH-A	brain
22	chr12:57999600-58004200	Weak transcription	NHLF	lung
23	chr12:57999600-58004600	Weak transcription	GM12878-XiMat	blood
24	chr12:57999800-58000400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:57999800-58000400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:57999800-58000400	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:57999800-58000400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
28	chr12:57999800-58000600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:57999800-58000600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:57999800-58000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:57999800-58000600	Genic enhancers	Colon Smooth Muscle	Colon
32	chr12:57999800-58000600	Weak transcription	Left Ventricle	heart
33	chr12:57999800-58000600	Weak transcription	Spleen	Spleen
34	chr12:57999800-58001000	Weak transcription	Brain Substantia Nigra	brain
35	chr12:57999800-58001200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:57999800-58001200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:57999800-58001800	Weak transcription	Dnd41	blood
38	chr12:57999800-58002400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:57999800-58002400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:57999800-58002400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:57999800-58002400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:57999800-58002800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:57999800-58002800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:57999800-58002800	Weak transcription	Fetal Intestine Large	intestine
45	chr12:57999800-58003200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:57999800-58003200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:57999800-58003800	Weak transcription	Colonic Mucosa	Colon
48	chr12:57999800-58003800	Weak transcription	Right Atrium	heart
49	chr12:57999800-58004000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:57999800-58004000	Weak transcription	NHDF-Ad	bronchial

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